A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590851



Internal ID6978179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:55096716..55109680hg38UCSC Ensembl
Innerchr2:55096718..55109679hg38UCSC Ensembl
Outerchr2:55096715..55109682hg38UCSC Ensembl
chr2:55323852..55336816hg19UCSC Ensembl
Innerchr2:55323854..55336815hg19UCSC Ensembl
Outerchr2:55323851..55336818hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3812965
hg1912965
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10512194, essv10512190, essv10512183, essv10512192, essv10512176, essv10512187, essv10512186, essv10512189, essv10512180, essv10512181, essv10512188, essv10512179, essv10512177, essv10512185, essv10512178, essv10512182, essv10512193, essv10512191, essv10512184
SamplesNA19141, HG01066, NA20512, HG02804, HG02325, NA20541, NA20539, HG02561, NA20340, HG02976, HG03294, NA19390, NA19108, HG02580, HG03442, NA20289, NA20585, HG02629, HG03303
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590851
Frequency
Sample Size2504
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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